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Items: 1 to 100 of 261

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr12:13768104
GRCh38:
Chr12:13615170
GRIN2BEpileptic encephalopathy, early infantile, 27Likely pathogenic
(Sep 22, 2014)
criteria provided, single submitter
2.
GRCh37:
Chr12:173786-34835837
A2M, APOBEC1, ARHGDIB, ART4, BCAT1, BICD1, C1R, C1S, C3AR1, CACNA1C, CCND2, CD4, CD9, CD27, CD69, CDKN1B, CHD4, CREBL2, DDX11, ATN1, PHC1, EMP1, ENO2, EPS8, ETV6, FGF6, FKBP4, FOXM1, GAPDH, GNAI2P1, GNB3, GPR19, GRIN2B, GUCY2C, GYS2, IAPP, ITPR2, KCNA1, KCNA5, KCNA6, KCNJ8, KLRB1, KLRC1, KLRC2, KLRC3, KLRD1, KRAS, LAG3, LDHB, LRMP, LRP6, LTBR, M6PR, MGP, MGST1, NDUFA9, NINJ2, NOP2, NTF3, OLR1, PDE3A, PDE6H, PIK3C2G, PKP2, PRB1, PRB3, PRB4, PRH1, PRH2, PTHLH, PTMS, PTPN6, PTPRO, PEX5, PZP, RAD52, KDM5A, RECQL, SCNN1A, ST8SIA1, SLC2A3, SLC6A12, SLC6A13, SLCO1A2, SOX5, VAMP1, TEAD4, TNFRSF1A, TPI1, TULP3, VWF, FGF23, MFAP5, USP5, MLF2, SSPN, KLRC4, PPFIBP1, YBX3, DYRK4, GPRC5A, CD163, MED21, GDF3, CLSTN3, C2CD5, NCAPD2, CLEC2B, DNM1L, ABCC9, LPCAT3, KLRG1, LRRC23, EMG1, IPO8, P3H3, AKAP3, SLCO1B1, RAD51AP1, KLRA1P, TSPAN9, STRAP, RASSF8, PRR4, PHB2, KLRK1, STK38L, ERC1, GABARAPL1, IFFO1, NECAP1, FGFR1OP2, CLEC4E, GALNT8, GPR162, SLCO1B3, CLEC2D, COPS7A, TAS2R9, TAS2R8, TAS2R7, TAS2R13, TAS2R10, TAS2R14, CLEC4A, HEBP1, GOLT1B, YARS2, DERA, ING4, DDX47, MRPL51, CLEC1B, CLEC1A, C1RL, ERGIC2, KLRF1, WBP11, TM7SF3, SLCO1C1, PLEKHA5, MANSC1, TAPBPL, MAGOHB, FAM90A1, KIAA1551, PLEKHG6, CASC1, CCDC91, STYK1, ETNK1, GPRC5D, FAR2, INTS13, ATF7IP, H2AFJ, FOXJ2, ITFG2, LMO3, CMAS, DAD1P1, PRMT8, ARNTL2, PARP11, ANO2, C12orf4, TIGAR, LPAR5, AICDA, RIMKLB, KLHL42, FAM234B, FAM60A, MRPS35, CLEC7A, WNK1, CAPRIN2, BHLHE41, BCL2L14, ADIPOR2, RERGL, PLBD1, PYROXD1, NANOG, SPX, DUSP16, WNT5B, APOLD1, GSG1, CDCA3, RHNO1, NRIP2, RBP5, TMTC1, CCDC77, ACRBP, SPSB2, CRACR2A, ALG10, RERG, PLCZ1, CACNA2D4, CAPZA3, CLEC6A, C12orf57, BORCS5, TMEM52B, HIST4H4, ERP27, FGD4, AEBP2, SLC2A14, ETFRF1, A2ML1, C12orf60, FBXL14, CLEC12A, CLECL1, LMNTD1, DENND5B, CLEC4C, ZNF384, AMN1, C12orf77, PIANP, DCP1B, ETFBKMT, TAS2R43, TAS2R31, TAS2R46, TAS2R30, TAS2R19, TAS2R20, TAS2R50, CD163L1, B4GALNT3, CLEC9A, CLEC4D, SLCO1B7, SMCO2, OVCH1, SYT10, ACSM4, TAS2R42, DPPA3, NANOGNB, CLEC2A, CLEC12B, REP15, MIR141, MIR200C, IQSEC3, ZNF705A, DDX12P, SMCO3, H3F3C, TSPAN11, PRB2, LRTM2, SKP1P2, C12orf71, SLC15A5, LOC100049716, MANSC4, KLRF2
See casesPathogenicno assertion criteria provided
3.
GRCh37:
Chr12:173786-25286865
A2M, APOBEC1, ARHGDIB, ART4, BCAT1, C1R, C1S, C3AR1, CACNA1C, CCND2, CD4, CD9, CD27, CD69, CDKN1B, CHD4, CREBL2, ATN1, PHC1, EMP1, ENO2, EPS8, ETV6, FGF6, FKBP4, FOXM1, GAPDH, GNAI2P1, GNB3, GPR19, GRIN2B, GUCY2C, GYS2, IAPP, KCNA1, KCNA5, KCNA6, KCNJ8, KLRB1, KLRC1, KLRC2, KLRC3, KLRD1, LAG3, LDHB, LRMP, LRP6, LTBR, M6PR, MGP, MGST1, NDUFA9, NINJ2, NOP2, NTF3, OLR1, PDE3A, PDE6H, PIK3C2G, PRB1, PRB3, PRB4, PRH1, PRH2, PTMS, PTPN6, PTPRO, PEX5, PZP, RAD52, KDM5A, RECQL, SCNN1A, ST8SIA1, SLC2A3, SLC6A12, SLC6A13, SLCO1A2, SOX5, VAMP1, TEAD4, TNFRSF1A, TPI1, TULP3, VWF, FGF23, MFAP5, USP5, MLF2, KLRC4, YBX3, DYRK4, GPRC5A, CD163, GDF3, CLSTN3, C2CD5, NCAPD2, CLEC2B, ABCC9, LPCAT3, KLRG1, LRRC23, EMG1, P3H3, AKAP3, SLCO1B1, RAD51AP1, KLRA1P, TSPAN9, STRAP, PRR4, PHB2, KLRK1, ERC1, GABARAPL1, IFFO1, NECAP1, CLEC4E, GALNT8, GPR162, SLCO1B3, CLEC2D, COPS7A, TAS2R9, TAS2R8, TAS2R7, TAS2R13, TAS2R10, TAS2R14, CLEC4A, HEBP1, GOLT1B, DERA, ING4, DDX47, MRPL51, CLEC1B, CLEC1A, C1RL, KLRF1, WBP11, SLCO1C1, PLEKHA5, MANSC1, TAPBPL, MAGOHB, FAM90A1, PLEKHG6, CASC1, STYK1, ETNK1, GPRC5D, ATF7IP, H2AFJ, FOXJ2, ITFG2, LMO3, CMAS, DAD1P1, PRMT8, PARP11, ANO2, C12orf4, TIGAR, LPAR5, AICDA, RIMKLB, FAM234B, CLEC7A, WNK1, BCL2L14, ADIPOR2, RERGL, PLBD1, PYROXD1, NANOG, SPX, DUSP16, WNT5B, APOLD1, GSG1, CDCA3, RHNO1, NRIP2, RBP5, CCDC77, ACRBP, SPSB2, CRACR2A, RERG, PLCZ1, CACNA2D4, CAPZA3, CLEC6A, C12orf57, BORCS5, TMEM52B, HIST4H4, ERP27, AEBP2, SLC2A14, A2ML1, C12orf60, FBXL14, CLEC12A, CLECL1, CLEC4C, ZNF384, C12orf77, PIANP, DCP1B, TAS2R43, TAS2R31, TAS2R46, TAS2R30, TAS2R19, TAS2R20, TAS2R50, CD163L1, B4GALNT3, CLEC9A, CLEC4D, SLCO1B7, ACSM4, TAS2R42, DPPA3, NANOGNB, CLEC2A, CLEC12B, MIR141, MIR200C, IQSEC3, ZNF705A, DDX12P, SMCO3, PRB2, LRTM2, SKP1P2, SLC15A5, LOC100049716, KLRF2
See casesPathogenicno assertion criteria provided
4.
GRCh37:
Chr12:173786-20026080
A2M, APOBEC1, ARHGDIB, ART4, C1R, C1S, C3AR1, CACNA1C, CCND2, CD4, CD9, CD27, CD69, CDKN1B, CHD4, CREBL2, ATN1, PHC1, EMP1, ENO2, EPS8, ETV6, FGF6, FKBP4, FOXM1, GAPDH, GNAI2P1, GNB3, GPR19, GRIN2B, GUCY2C, KCNA1, KCNA5, KCNA6, KLRB1, KLRC1, KLRC2, KLRC3, KLRD1, LAG3, LRP6, LTBR, M6PR, MGP, MGST1, NDUFA9, NINJ2, NOP2, NTF3, OLR1, PDE6H, PIK3C2G, PRB1, PRB3, PRB4, PRH1, PRH2, PTMS, PTPN6, PTPRO, PEX5, PZP, RAD52, KDM5A, SCNN1A, SLC2A3, SLC6A12, SLC6A13, VAMP1, TEAD4, TNFRSF1A, TPI1, TULP3, VWF, FGF23, MFAP5, USP5, MLF2, KLRC4, YBX3, DYRK4, GPRC5A, CD163, GDF3, CLSTN3, NCAPD2, CLEC2B, LPCAT3, KLRG1, LRRC23, EMG1, P3H3, AKAP3, RAD51AP1, KLRA1P, TSPAN9, STRAP, PRR4, PHB2, KLRK1, ERC1, GABARAPL1, IFFO1, NECAP1, CLEC4E, GALNT8, GPR162, CLEC2D, COPS7A, TAS2R9, TAS2R8, TAS2R7, TAS2R13, TAS2R10, TAS2R14, CLEC4A, HEBP1, DERA, ING4, DDX47, MRPL51, CLEC1B, CLEC1A, C1RL, KLRF1, WBP11, PLEKHA5, MANSC1, TAPBPL, MAGOHB, FAM90A1, PLEKHG6, STYK1, GPRC5D, ATF7IP, H2AFJ, FOXJ2, ITFG2, LMO3, PRMT8, PARP11, ANO2, C12orf4, TIGAR, LPAR5, AICDA, RIMKLB, FAM234B, CLEC7A, WNK1, BCL2L14, ADIPOR2, RERGL, PLBD1, NANOG, DUSP16, WNT5B, APOLD1, GSG1, CDCA3, RHNO1, NRIP2, RBP5, CCDC77, ACRBP, SPSB2, CRACR2A, RERG, PLCZ1, CACNA2D4, CAPZA3, CLEC6A, C12orf57, BORCS5, TMEM52B, HIST4H4, ERP27, AEBP2, SLC2A14, A2ML1, C12orf60, FBXL14, CLEC12A, CLECL1, CLEC4C, ZNF384, PIANP, DCP1B, TAS2R43, TAS2R31, TAS2R46, TAS2R30, TAS2R19, TAS2R20, TAS2R50, CD163L1, B4GALNT3, CLEC9A, CLEC4D, ACSM4, TAS2R42, DPPA3, NANOGNB, CLEC2A, CLEC12B, MIR141, MIR200C, IQSEC3, ZNF705A, DDX12P, SMCO3, PRB2, LRTM2, SKP1P2, SLC15A5, LOC100049716, KLRF2
See casesPathogenicno assertion criteria provided
5.
GRCh37:
Chr12:173786-37869301
A2M, APOBEC1, ARHGDIB, ART4, BCAT1, BICD1, C1R, C1S, C3AR1, CACNA1C, CCND2, CD4, CD9, CD27, CD69, CDKN1B, CHD4, CREBL2, DDX11, ATN1, PHC1, EMP1, ENO2, EPS8, ETV6, FGF6, FKBP4, FOXM1, GAPDH, GNAI2P1, GNB3, GPR19, GRIN2B, GUCY2C, GYS2, IAPP, ITPR2, KCNA1, KCNA5, KCNA6, KCNJ8, KLRB1, KLRC1, KLRC2, KLRC3, KLRD1, KRAS, LAG3, LDHB, LRMP, LRP6, LTBR, M6PR, MGP, MGST1, NDUFA9, NINJ2, NOP2, NTF3, OLR1, PDE3A, PDE6H, PIK3C2G, PKP2, PRB1, PRB3, PRB4, PRH1, PRH2, PTHLH, PTMS, PTPN6, PTPRO, PEX5, PZP, RAD52, KDM5A, RECQL, SCNN1A, ST8SIA1, SLC2A3, SLC6A12, SLC6A13, SLCO1A2, SOX5, VAMP1, TEAD4, TNFRSF1A, TPI1, TULP3, VWF, FGF23, MFAP5, USP5, MLF2, SSPN, KLRC4, PPFIBP1, YBX3, DYRK4, GPRC5A, CD163, MED21, GDF3, CLSTN3, C2CD5, NCAPD2, CLEC2B, DNM1L, ABCC9, LPCAT3, KLRG1, LRRC23, EMG1, IPO8, P3H3, AKAP3, SLCO1B1, RAD51AP1, KLRA1P, TSPAN9, STRAP, RASSF8, PRR4, PHB2, KLRK1, STK38L, ERC1, GABARAPL1, IFFO1, NECAP1, FGFR1OP2, CLEC4E, GALNT8, GPR162, SLCO1B3, CLEC2D, COPS7A, TAS2R9, TAS2R8, TAS2R7, TAS2R13, TAS2R10, TAS2R14, CLEC4A, HEBP1, GOLT1B, YARS2, DERA, ING4, DDX47, MRPL51, CLEC1B, CLEC1A, C1RL, ERGIC2, KLRF1, WBP11, TM7SF3, SLCO1C1, PLEKHA5, MANSC1, TAPBPL, MAGOHB, FAM90A1, KIAA1551, PLEKHG6, CASC1, CCDC91, STYK1, ETNK1, GPRC5D, FAR2, INTS13, ATF7IP, H2AFJ, FOXJ2, ITFG2, LMO3, CMAS, DAD1P1, PRMT8, ARNTL2, PARP11, ANO2, C12orf4, TIGAR, LPAR5, AICDA, RIMKLB, KLHL42, FAM234B, FAM60A, MRPS35, CLEC7A, WNK1, CAPRIN2, BHLHE41, BCL2L14, ADIPOR2, RERGL, PLBD1, PYROXD1, NANOG, SPX, DUSP16, WNT5B, APOLD1, GSG1, CDCA3, RHNO1, NRIP2, RBP5, TMTC1, CCDC77, ACRBP, SPSB2, CRACR2A, ALG10, RERG, PLCZ1, CACNA2D4, CAPZA3, CLEC6A, C12orf57, BORCS5, TMEM52B, HIST4H4, ERP27, FGD4, AEBP2, SLC2A14, ETFRF1, A2ML1, C12orf60, FBXL14, CLEC12A, CLECL1, LMNTD1, DENND5B, CLEC4C, ZNF384, AMN1, C12orf77, PIANP, DCP1B, ETFBKMT, TAS2R43, TAS2R31, TAS2R46, TAS2R30, TAS2R19, TAS2R20, TAS2R50, CD163L1, B4GALNT3, CLEC9A, CLEC4D, SLCO1B7, SMCO2, OVCH1, SYT10, ACSM4, TAS2R42, DPPA3, NANOGNB, CLEC2A, CLEC12B, REP15, MIR141, MIR200C, IQSEC3, ZNF705A, DDX12P, SMCO3, H3F3C, TSPAN11, PRB2, LRTM2, SKP1P2, C12orf71, SLC15A5, LOC100049716, MANSC4, KLRF2
See casesPathogenicno assertion criteria provided
6.
GRCh37:
Chr12:189578-34756150
A2M, APOBEC1, ARHGDIB, ART4, BCAT1, BICD1, C1R, C1S, C3AR1, CACNA1C, CCND2, CD4, CD9, CD27, CD69, CDKN1B, CHD4, CREBL2, DDX11, ATN1, PHC1, EMP1, ENO2, EPS8, ETV6, FGF6, FKBP4, FOXM1, GAPDH, GNAI2P1, GNB3, GPR19, GRIN2B, GUCY2C, GYS2, IAPP, ITPR2, KCNA1, KCNA5, KCNA6, KCNJ8, KLRB1, KLRC1, KLRC2, KLRC3, KLRD1, KRAS, LAG3, LDHB, LRMP, LRP6, LTBR, M6PR, MGP, MGST1, NDUFA9, NINJ2, NOP2, NTF3, OLR1, PDE3A, PDE6H, PIK3C2G, PKP2, PRB1, PRB3, PRB4, PRH1, PRH2, PTHLH, PTMS, PTPN6, PTPRO, PEX5, PZP, RAD52, KDM5A, RECQL, SCNN1A, ST8SIA1, SLC2A3, SLC6A12, SLC6A13, SLCO1A2, SOX5, VAMP1, TEAD4, TNFRSF1A, TPI1, TULP3, VWF, FGF23, MFAP5, USP5, MLF2, SSPN, KLRC4, PPFIBP1, YBX3, DYRK4, GPRC5A, CD163, MED21, GDF3, CLSTN3, C2CD5, NCAPD2, CLEC2B, DNM1L, ABCC9, LPCAT3, KLRG1, LRRC23, EMG1, IPO8, P3H3, AKAP3, SLCO1B1, RAD51AP1, KLRA1P, TSPAN9, STRAP, RASSF8, PRR4, PHB2, KLRK1, STK38L, ERC1, GABARAPL1, IFFO1, NECAP1, FGFR1OP2, CLEC4E, GALNT8, GPR162, SLCO1B3, CLEC2D, COPS7A, TAS2R9, TAS2R8, TAS2R7, TAS2R13, TAS2R10, TAS2R14, CLEC4A, HEBP1, GOLT1B, YARS2, DERA, ING4, DDX47, MRPL51, CLEC1B, CLEC1A, C1RL, ERGIC2, KLRF1, WBP11, TM7SF3, SLCO1C1, PLEKHA5, MANSC1, TAPBPL, MAGOHB, FAM90A1, KIAA1551, PLEKHG6, CASC1, CCDC91, STYK1, ETNK1, GPRC5D, FAR2, INTS13, ATF7IP, H2AFJ, FOXJ2, ITFG2, LMO3, CMAS, DAD1P1, PRMT8, ARNTL2, PARP11, ANO2, C12orf4, TIGAR, LPAR5, AICDA, RIMKLB, KLHL42, FAM234B, FAM60A, MRPS35, CLEC7A, WNK1, CAPRIN2, BHLHE41, BCL2L14, ADIPOR2, RERGL, PLBD1, PYROXD1, NANOG, SPX, DUSP16, WNT5B, APOLD1, GSG1, CDCA3, RHNO1, NRIP2, RBP5, TMTC1, CCDC77, ACRBP, SPSB2, CRACR2A, ALG10, RERG, PLCZ1, CACNA2D4, CAPZA3, CLEC6A, C12orf57, BORCS5, TMEM52B, HIST4H4, ERP27, FGD4, AEBP2, SLC2A14, ETFRF1, A2ML1, C12orf60, FBXL14, CLEC12A, CLECL1, LMNTD1, DENND5B, CLEC4C, ZNF384, AMN1, C12orf77, PIANP, DCP1B, ETFBKMT, TAS2R43, TAS2R31, TAS2R46, TAS2R30, TAS2R19, TAS2R20, TAS2R50, CD163L1, B4GALNT3, CLEC9A, CLEC4D, SLCO1B7, SMCO2, OVCH1, SYT10, ACSM4, TAS2R42, DPPA3, NANOGNB, CLEC2A, CLEC12B, REP15, MIR141, MIR200C, IQSEC3, ZNF705A, DDX12P, SMCO3, H3F3C, TSPAN11, PRB2, LRTM2, SKP1P2, C12orf71, SLC15A5, LOC100049716, MANSC4, KLRF2
See casesPathogenic
(Nov 30, 2010)
no assertion criteria provided
7.
GRCh37:
Chr12:13768555
GRCh38:
Chr12:13615621
GRIN2Bnot providedPathogenic
(Jan 9, 2017)
criteria provided, single submitter
8.
GRCh37:
Chr12:13768147
GRCh38:
Chr12:13615213
GRIN2Bnot providedPathogenic
(Jan 5, 2017)
criteria provided, single submitter
9.
GRCh37:
Chr12:13715762
GRCh38:
Chr12:13562828
GRIN2Bnot specifiedLikely benign
(Dec 7, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr12:14019063
GRCh38:
Chr12:13866129
GRIN2Bnot specifiedLikely benign
(Dec 13, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr12:13716421
GRCh38:
Chr12:13563487
GRIN2Bnot specifiedLikely benign
(Aug 15, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr12:13906721
GRCh38:
Chr12:13753787
GRIN2Bnot specifiedLikely benign
(Aug 12, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr12:13717359
GRCh38:
Chr12:13564425
GRIN2Bnot specifiedUncertain significance
(Aug 5, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr12:13828724
GRCh38:
Chr12:13675790
GRIN2Bnot specifiedLikely benign
(Jul 28, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr12:13761666
GRCh38:
Chr12:13608732
GRIN2Bnot specifiedLikely benign
(Jul 22, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr12:13828705
GRCh38:
Chr12:13675771
GRIN2Bnot specifiedLikely benign
(Jul 19, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr12:13906817
GRCh38:
Chr12:13753883
GRIN2Bnot specifiedLikely benign
(May 26, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr12:13716158
GRCh38:
Chr12:13563224
GRIN2Bnot specifiedLikely benign
(May 11, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr12:14018990
GRCh38:
Chr12:13866056
GRIN2Bnot specifiedLikely benign
(May 6, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr12:14019047
GRCh38:
Chr12:13866113
GRIN2Bnot specifiedLikely benign
(May 5, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr12:13906631
GRCh38:
Chr12:13753697
GRIN2Bnot specifiedLikely benign
(Apr 12, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr12:13724863
GRCh38:
Chr12:13571929
GRIN2Bnot specifiedLikely benign
(Apr 6, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr12:13906748
GRCh38:
Chr12:13753814
GRIN2Bnot specifiedLikely benign
(Jan 16, 2017)
criteria provided, single submitter
24.
GRCh37:
Chr12:13715885
GRCh38:
Chr12:13562951
GRIN2Bnot specifiedLikely benign
(Aug 10, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr12:13768571
GRCh38:
Chr12:13615637
GRIN2Bnot specifiedLikely benign
(Sep 14, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr12:13715993
GRCh38:
Chr12:13563059
GRIN2Bnot specifiedLikely benign
(Jul 21, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr12:13764735
GRCh38:
Chr12:13611801
GRIN2Bnot specifiedLikely benign
(Aug 30, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr12:13768220
GRCh38:
Chr12:13615286
GRIN2Bnot specifiedLikely benign
(Jun 29, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr12:13906449
GRCh38:
Chr12:13753515
GRIN2Bnot specifiedGMAF:0.00040(A)
GO-ESP:0.00028(A)
Likely benign
(May 11, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr12:13716179
GRCh38:
Chr12:13563245
GRIN2Bnot providedUncertain significance
(Feb 6, 2017)
criteria provided, single submitter
31.
GRCh37:
Chr12:13715857
GRCh38:
Chr12:13562923
GRIN2BEpilepsy, focal, with speech disorder and with or without mental retardationGO-ESP:0.00001(C)Uncertain significance
(Nov 16, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr12:14019100
GRCh38:
Chr12:13866166
GRIN2BEpileptic encephalopathyUncertain significance
(Nov 16, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr12:13761726
GRCh38:
Chr12:13608792
GRIN2BMental retardation, autosomal dominant 6Likely pathogenic
(Mar 13, 2015)
no assertion criteria provided
34.
GRCh37:
Chr12:13764767
GRCh38:
Chr12:13611833
GRIN2Bintellectual deficiencyLikely pathogenicno assertion criteria provided
35.
GRCh37:
Chr12:13724793
GRCh38:
Chr12:13571859
GRIN2BSeizure Disorders, Ataxia, intellectual deficiency
Likely pathogenicno assertion criteria provided
36.
GRCh37:
Chr12:13720162
GRCh38:
Chr12:13567228
GRIN2BIntellectual disability, Developmental delayLikely pathogenic
(May 16, 2016)
no assertion criteria provided
37.
GRCh37:
Chr12:13761545
GRCh38:
Chr12:13608611
GRIN2BMotor delay, Delayed speech and language development, Astigmatism,
Joint hypermobility, Long fingers
Pathogenic
(Mar 9, 2016)
no assertion criteria provided
38.
GRCh37:
Chr12:13716208
GRCh38:
Chr12:13563274
GRIN2Bnot specifiedUncertain significance
(Dec 14, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr12:13764656-13764657
GRCh38:
Chr12:13611722-13611723
GRIN2Bnot providedPathogenic
(Nov 28, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr12:13717413
GRCh38:
Chr12:13564479
GRIN2Bnot specifiedGO-ESP:0.00001(T)Uncertain significance
(Dec 1, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr12:13717163
GRCh38:
Chr12:13564229-13564232
GRIN2Bnot providedLikely pathogenic
(Dec 9, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr12:13720027
GRCh38:
Chr12:13567093
GRIN2Bnot specifiedGO-ESP:0.00001(G)Uncertain significance
(Nov 28, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr12:13716250
GRCh38:
Chr12:13563316
GRIN2Bnot specifiedGO-ESP:0.00001(T)Uncertain significance
(Nov 25, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr12:14019151
GRCh38:
Chr12:13866217
GRIN2BIntellectual Disability, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr12:14019110
GRCh38:
Chr12:13866176
GRIN2BIntellectual Disability, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr12:14018954
GRCh38:
Chr12:13866020
GRIN2BIntellectual Disability, DominantGMAF:0.00060(T)
GO-ESP:0.00003(A)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr12:13906529
GRCh38:
Chr12:13753595
GRIN2Bnot specified, Intellectual Disability, DominantGO-ESP:0.00003(C)Conflicting interpretations of pathogenicity
(Aug 17, 2016)
criteria provided, conflicting interpretations
48.
GRCh37:
Chr12:13769397
GRCh38:
Chr12:13616463
GRIN2BIntellectual Disability, DominantGO-ESP:0.00001(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr12:13768427
GRCh38:
Chr12:13615493
GRIN2BIntellectual Disability, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
50.
GRCh37:
Chr12:13768133
GRCh38:
Chr12:13615199
GRIN2Bnot specified, Intellectual Disability, DominantGMAF:0.00020(A)
GO-ESP:0.00015(A)
Conflicting interpretations of pathogenicity
(Dec 2, 2016)
criteria provided, conflicting interpretations
51.
GRCh37:
Chr12:13764672
GRCh38:
Chr12:13611738
GRIN2BIntellectual Disability, DominantGO-ESP:0.00001(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr12:13724740
GRCh38:
Chr12:13571806
GRIN2BIntellectual Disability, DominantGO-ESP:0.00004(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
53.
GRCh37:
Chr12:13722959
GRCh38:
Chr12:13570025
GRIN2BIntellectual Disability, DominantGO-ESP:0.00002(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr12:13722876
GRCh38:
Chr12:13569942
GRIN2BIntellectual Disability, DominantGO-ESP:0.00005(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr12:13717346
GRCh38:
Chr12:13564412
GRIN2Bnot specified, Intellectual Disability, DominantGMAF:0.00020(T)
GO-ESP:0.00003(T)
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
56.
GRCh37:
Chr12:13717306
GRCh38:
Chr12:13564372
GRIN2BIntellectual Disability, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr12:13717282
GRCh38:
Chr12:13564348
GRIN2BIntellectual Disability, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
58.
GRCh37:
Chr12:13716469
GRCh38:
Chr12:13563535
GRIN2BIntellectual Disability, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
59.
GRCh37:
Chr12:13716347
GRCh38:
Chr12:13563413
GRIN2BIntellectual Disability, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
60.
GRCh37:
Chr12:13716335
GRCh38:
Chr12:13563401
GRIN2BIntellectual Disability, DominantGMAF:0.00020(C)
GO-ESP:0.00068(C)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
61.
GRCh37:
Chr12:13716131
GRCh38:
Chr12:13563197
GRIN2BIntellectual Disability, DominantGO-ESP:0.00002(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
62.
GRCh37:
Chr12:13715957
GRCh38:
Chr12:13563023
GRIN2BIntellectual Disability, DominantGO-ESP:0.00001(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
63.
GRCh37:
Chr12:13715942
GRCh38:
Chr12:13563008
GRIN2BIntellectual Disability, DominantGO-ESP:0.00031(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
64.
GRCh37:
Chr12:13715689-13715692
GRCh38:
Chr12:13562755-13562758
GRIN2BIntellectual Disability, DominantGO-ESP:0.00030(-)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
65.
GRCh37:
Chr12:13715687
GRCh38:
Chr12:13562753
GRIN2BIntellectual Disability, DominantGO-ESP:0.00002(C)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
66.
GRCh37:
Chr12:13715604-13715607
GRCh38:
Chr12:13562670-13562673
GRIN2BIntellectual Disability, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
67.
GRCh37:
Chr12:13715571
GRCh38:
Chr12:13562637
GRIN2BIntellectual Disability, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
68.
GRCh37:
Chr12:13715503
GRCh38:
Chr12:13562569
GRIN2BIntellectual Disability, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
69.
GRCh37:
Chr12:13715498
GRCh38:
Chr12:13562564
GRIN2BIntellectual Disability, DominantGMAF:0.01260(A)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
70.
GRCh37:
Chr12:13715485
GRCh38:
Chr12:13562551
GRIN2BIntellectual Disability, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
71.
GRCh37:
Chr12:13715482
GRCh38:
Chr12:13562548
GRIN2BIntellectual Disability, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
72.
GRCh37:
Chr12:13715432
GRCh38:
Chr12:13562498
GRIN2BIntellectual Disability, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
73.
GRCh37:
Chr12:13715424
GRCh38:
Chr12:13562490
GRIN2BIntellectual Disability, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
74.
GRCh37:
Chr12:13715375
GRCh38:
Chr12:13562441
GRIN2BIntellectual Disability, DominantGMAF:0.00260(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
75.
GRCh37:
Chr12:13715349
GRCh38:
Chr12:13562415
GRIN2BIntellectual Disability, DominantGMAF:0.00100(C)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
76.
GRCh37:
Chr12:13715308
GRCh38:
Chr12:13562374
GRIN2BIntellectual Disability, DominantGMAF:0.27500(C)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
77.
GRCh37:
Chr12:13715150
GRCh38:
Chr12:13562216
GRIN2BIntellectual Disability, DominantGMAF:0.00900(G)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
78.
GRCh37:
Chr12:13714855
GRCh38:
Chr12:13561921
GRIN2BIntellectual Disability, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
79.
GRCh37:
Chr12:13714826
GRCh38:
Chr12:13561892
GRIN2BIntellectual Disability, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
80.
GRCh37:
Chr12:13714766
GRCh38:
Chr12:13561832
GRIN2BIntellectual Disability, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
81.
GRCh37:
Chr12:13714729
GRCh38:
Chr12:13561795
GRIN2BIntellectual Disability, DominantGMAF:0.10860(T)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
82.
GRCh37:
Chr12:13714643
GRCh38:
Chr12:13561709
GRIN2BIntellectual Disability, DominantGMAF:0.00540(A)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
83.
GRCh37:
Chr12:13714564
GRCh38:
Chr12:13561630
GRIN2BIntellectual Disability, DominantGMAF:0.00100(G)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
84.
GRCh37:
Chr12:13714553
GRCh38:
Chr12:13561619
GRIN2BIntellectual Disability, DominantGMAF:0.00020(C)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
85.
GRCh37:
Chr12:13714538
GRCh38:
Chr12:13561604
GRIN2BIntellectual Disability, DominantGMAF:0.00060(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
86.
GRCh37:
Chr12:13714487
GRCh38:
Chr12:13561553
GRIN2BIntellectual Disability, DominantGMAF:0.00100(G)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
87.
GRCh37:
Chr12:13722923
GRCh38:
Chr12:13569989
GRIN2Bnot specifiedUncertain significance
(Aug 22, 2016)
criteria provided, single submitter
88.
GRCh37:
Chr12:13761724
GRCh38:
Chr12:13608790
GRIN2BMental retardation, autosomal dominant 6Pathogenic
(Jan 22, 2016)
criteria provided, single submitter
89.
GRCh37:
Chr12:13717160
GRCh38:
Chr12:13564226
GRIN2Bnot providedPathogenic
(May 2, 2016)
criteria provided, single submitter
90.
GRCh37:
Chr12:13768155
GRCh38:
Chr12:13615221
GRIN2Bnot providedPathogenic
(May 20, 2016)
criteria provided, single submitter
91.
GRCh37:
Chr12:13724864
GRCh38:
Chr12:13571930
GRIN2BMental retardation, autosomal dominant 6Likely pathogenic
(Nov 10, 2016)
criteria provided, single submitter
92.
GRCh37:
Chr12:1-133851895
A2M, ACACB, ACADS, ASIC1, ACVR1B, ACVRL1, ADCY6, ALDH2, ABCD2, AMHR2, APAF1, APOF, APOBEC1, AQP2, AQP5, AQP6, ARF3, ARHGDIB, ARL1, ART4, ASCL1, ATF1, ATP2A2, ATP2B1, ATP5B, ATP5G2, AVPR1A, BCAT1, BCL7A, BICD1, BTG1, C1R, C1S, C3AR1, CACNA1C, CACNB3, CCND2, CCNT1, CD4, CD9, CD27, SCARB1, CD63, CD69, CDK2, CDK4, CDKN1B, CHD4, CMKLR1, CNTN1, COL2A1, COX6A1, CPM, CREBL2, CRY1, CS, CSRP2, CYP27B1, DGKA, DAO, DCN, DDIT3, DDX11, ATN1, EPYC, DTX1, DUSP6, PHC1, EIF2B1, EIF4B, CELA1, ELK3, EMP1, ENO2, STX2, EPS8, ERBB3, ETV6, FGF6, FKBP4, FOXM1, B4GALNT1, GAPDH, BLOC1S1, GLI1, GNAI2P1, GNB3, GNS, GOLGA3, GPD1, GPR19, GRIN2B, GTF2H3, GUCY2C, GYS2, HAL, NCKAP1L, NR4A1, HNRNPA1, HOXC4, HOXC5, HOXC6, HOXC8, HOXC9, HOXC10, HOXC11, HOXC12, HOXC13, HPD, IAPP, IFNG, IGF1, IGFBP6, INHBC, ITGA5, ITGA7, ITGB7, ITPR2, KCNA1, KCNA5, KCNA6, KCNC2, KCNJ8, KIF5A, KLRB1, KLRC1, KLRC2, KLRC3, KLRD1, KRAS, KRT1, KRT2, KRT3, KRT4, KRT5, KRT6A, KRT6B, KRT7, KRT8, KRT18, KRT81, KRT82, KRT83, KRT84, KRT85, KRT86, LAG3, LALBA, LDHB, LRMP, LRP1, LRP6, LTA4H, LTBR, LUM, LYZ, M6PR, MARS, MDM2, METTL1, KITLG, MGP, MGST1, MIP, MMP17, MMP19, MSI1, MVK, MYBPC1, MYF5, MYF6, MYL2, MYL6, MYO1A, PPP1R12A, NAB2, NACA, NAP1L1, NDUFA9, NELL2, NFE2, NFYB, NINJ2, NOP2, NOS1, CNOT2, SLC11A2, NTF3, NTS, OAS1, OAS2, OAS3, OLR1, P2RX4, P2RX7, PA2G4, PEBP1, PAH, PAWR, PCBP2, CDK17, PDE3A, PDE6H, PDE1B, PFDN5, PFKM, SLC25A3, PIK3C2G, PKP2, PLA2G1B, PMCH, POLE, POU6F1, PPP1CC, PPP1R1A, PRB1, PRB3, PRB4, PRH1, PRH2, PRIM1, PRKAB1, PRKAG1, PRPH, PSMD9, PTHLH, TWF1, PTMS, PTPN6, PTPN11, PTPRB, PTPRO, PTPRR, PXMP2, PXN, PEX5, PZP, RAB5B, RAD52, RAN, RAP1B, RARG, KDM5A, RBMS2, RDH5, RECQL, RFC5, RFX4, RPL6, RPL41, RPLP0, RPS26, CLIP1, TSPAN31, ATXN2, SCN8A, SCNN1A, SELPLG, SFSWAP, SHMT2, ST8SIA1, PMEL, SLC2A3, SLC6A12, SLC6A13, SLCO1A2, SMARCC2, SMARCD1, SNRPF, SOX5, SP1, STAT2, STAT6, SUOX, VAMP1, SYT1, TAC3, TARBP2, TBX5, TBX3, HNF1A, TDG, TEAD4, TMBIM6, TFCP2, TSPAN8, TMPO, TNFRSF1A, TPI1, NR2C1, HSP90B1, TULP3, TXNRD1, UBC, UBE2N, UNG, VDR, VWF, WNT1, WNT10B, ZNF10, ZNF26, ZNF84, ZNF140, MAP3K12, TUBA1A, FGF23, MFAP5, USP5, MLF2, SSPN, KMT2D, AAAS, YEATS4, HMGA2, ALX1, CDK2AP1, KLRC4, BRAP, ULK1, EEA1, SOAT2, RASAL1, DYRK2, PPFIBP1, PPFIA2, YBX3, LGR5, MAPKAPK5, DENR, RDH16, NPFF, HSD17B6, OASL, DYNLL1, SRSF9, GALNT4, CRADD, HRK, DYRK4, LIN7A, SOCS2, HCAR3, ENDOU, TIMELESS, HIP1R, GPRC5A, KRT75, SCAF11, RASSF9, SLC16A7, PIWIL1, CD163, MED21, DDX23, CABP1, SLC4A8, GDF3, NCOR2, WSCD2, ESPL1, SART3, KNTC1, CLSTN3, MLEC, DAZAP2, GIT2, TESPA1, C2CD5, ZBTB39, NUAK1, RBM19, NCAPD2, RNF10, PAN2, USP15, NR1H4, CLEC2B, SH2B3, TROAP, DNM1L, ABCC9, ARPC3, TSFM, CTDSP2, YAF2, PLXNC1, LPCAT3, RNF41, MPHOSPH9, KLRG1, GDF11, LRRC23, TMEM5, CNPY2, TUBA1B, RAPGEF3, EMG1, MCRS1, IPO8, P3H3, DCTN2, AKAP3, CCT2, SLCO1B1, RAD51AP1, CAMKK2, AVIL, PTGES3, KLRA1P, ZNF268, FRS2, TSPAN9, TRAFD1, OS9, TMED2, ERP29, CKAP4, GCN1, METAP2, SDS, GLIPR1, ATF7, RAB35, CPSF6, SNRNP35, KERA, KRR1, PRDM4, CIT, PWP1, FICD, NUDT4, STRAP, BAZ2A, WIF1, FZD10, IRAK3, GALNT6, RASSF8, NXPH4, XPOT, PRR4, GPR182, PHB2, COPZ1, PHLDA1, R3HDM2, MLXIP, RPH3A, KLRK1, P2RX2, RAB21, STK38L, FBXO21, FAIM2, MON2, SETD1B, UHRF1BP1L, ERC1, DDN, ANKLE2, NEMP1, CUX2, WASHC4, TBC1D30, ESYT1, TNS2, MED13L, ZDHHC17, SIRT4, KCNH3, GRIP1, ABCB9, CBX5, ISCU, RIMBP2, ANP32D, ATP6V0A2, SMUG1, LEMD3, CORO1C, GABARAPL1, PRPF40B, MGAT4C, METTL7A, LETMD1, METTL21B, IFFO1, ZNF385A, NECAP1, FGFR1OP2, CLEC4E, FBXW8, GALNT8, HSPB8, GLS2, HCAR1, GPR162, RND1, UTP20, KCNMB4, SLCO1B3, MRPL42, IFT81, CCDC59, ORMDL2, TBK1, CLEC2D, RACGAP1, SENP1, FAM216A, HCFC2, PDZRN4, TRHDE, SYCP3, CHST11, IL22, COPS7A, TAS2R9, TAS2R8, TAS2R7, TAS2R13, TAS2R10, TAS2R14, DHH, CLEC4A, HEBP1, WASHC3, GOLT1B, YARS2, DERA, CEP83, IRAK4, ING4, GPN3, DDX47, GLTP, MRPL51, CLEC1B, CLEC1A, C1RL, ERGIC2, FKBP11, ARL6IP4, TAOK3, KLRF1, KRT76, POP5, CSAD, BIN2, ANAPC5, ANAPC7, LIMA1, TRIAP1, PPHLN1, NT5DC3, IL23A, HDAC7, TMBIM4, VPS29, WBP11, TM7SF3, TPCN1, GPR84, SLCO1C1, SLC38A2, SSH1, PRR13, PLEKHA5, RHOF, VSIG10, MANSC1, KANSL2, TESC, PARPBP, TAPBPL, SLC38A4, MAGOHB, SLC6A15, FAM90A1, RIC8B, KIAA1551, APPL2, PLEKHG6, SBNO1, CASC1, TMEM19, CCDC91, DRAM1, STYK1, ETNK1, GPRC5D, SLC35E3, SVOP, STAB2, VEZT, ZCCHC8, KIF21A, SLC48A1, SCYL2, POLR3B, FAR2, LMBR1L, ASUN, ATF7IP, CHFR, H2AFJ, FGD6, IL26, FOXJ2, CAND1, ITFG2, WSB2, LMO3, CMAS, NDUFA12, DAD1P1, PRMT8, DIABLO, MDM1, ANKS1B, NDUFA4L2, ARNTL2, CHPT1, PARP11, ANO2, C12orf4, TIGAR, LPAR5, NUP107, SMAGP, AICDA, TMCC3, PPM1H, RIMKLB, SRGAP1, KLHL42, PITPNM2, DIP2B, FAM234B, EP400, DHX37, CALCOCO1, FBRSL1, DDX55, NCKAP5L, NEUROD4, FAM60A, NTN4, TRPV4, C12orf10, MRPS35, ATG101, LHX5, ARHGAP9, IKZF4, SUDS3, ACTR6, CLEC7A, TBC1D15, C12orf43, SLC26A10, VPS33A, RSRC2, WNK1, SPATS2, CAPRIN2, AACS, TMEM106C, NUP37, NABP2, DDX54, NOC4L, GNPTAB, BHLHE41, B3GNT4, BCL2L14, TCTN1, ADIPOR2, ACSS3, RPAP3, OGFOD2, VPS37B, BBS10, RERGL, C12orf49, PIP4K2C, TCTN2, PLBD1, PYROXD1, NANOG, DNAJC22, NAA25, SLC8B1, ADAMTS20, CEP290, RNF34, CCDC92, MTERF2, PUS1, ACAD10, SPX, DUSP16, WNT5B, SLC38A1, CSRNP2, APOLD1, GSG1, PUS7L, CDCA3, GLT8D2, THAP2, RHNO1, NRIP2, INHBE, RBP5, TMTC1, KCTD10, FAM186B, USP44, SLC41A2, LRRIQ1, METTL25, TMEM117, TCHP, COQ5, LLPH, PYM1, CCDC77, SARNP, HVCN1, ACRBP, SRRM4, CCDC62, KDM2B, CAPS2, SPSB2, UNC119B, USP30, CRACR2A, TUBA1C, ZC3H10, ORAI1, RNFT2, FAM222A, ALG10, SPRYD3, RITA1, MFSD5, COX14, RERG, DNAJC14, ZCRB1, CCDC65, ANKRD13A, NAV3, PLCZ1, TMEM116, UBE3B, LACRT, TMEM263, FMNL3, CERS5, C12orf29, ATP23, PCED1B, C12orf65, TMEM132C, BICDL1, HELB, MARCH9, COQ10A, CACNA2D4, CAPZA3, CLEC6A, KRT71, C12orf57, LARP4, SDSL, SLC2A13, MBD6, TMEM132B, OSBPL8, ARHGEF25, C12orf56, IQCD, AGAP2, DCD, RAB3IP, BORCS5, MUCL1, DEPDC4, LRRK2, CCDC38, TMEM52B, FAM186A, C12orf45, OR2AP1, OR10P1, SDR9C7, LRIG3, TMEM132D, SLC15A4, RHEBL1, C12orf54, ZNF641, OR10AD1, TPH2, SP7, GTSF1, OR10A7, KRT74, NEDD1, IKBIP, HIST4H4, ERP27, FGD4, AEBP2, ASCL4, BTBD11, SPIC, ANO4, ALKBH2, FOXN4, SPPL3, ASB8, MYL6B, BRI3BP, KRT72, PRICKLE1, AMDHD1, SLC2A14, BCDIN3D, ALG10B, GLIPR1L2, RFLNA, ZNF664, ETFRF1, CPNE8, TMEM120B, WDR66, GLT1D1, TSPAN19, BEST3, E2F7, KRT80, CFAP54, A2ML1, C12orf66, C12orf60, FBXL14, RAD9B, FAM109A, TMTC2, CLEC12A, CLECL1, TMTC3, C12orf50, ALDH1L2, LMNTD1, DENND5B, GRASP, SLC5A8, PPTC7, CCDC63, CCDC60, CLEC4C, ZNF384, PGAM5, KRT78, RILPL2, DNAH10, AMN1, DTX3, METTL7B, C12orf77, ZFC3H1, MYRFL, PLBD2, FAM71C, RMST, CCER1, PIANP, DCP1B, ANO6, ARID2, SLC17A8, STAC3, MSRB3, ETFBKMT, LRRC43, OR6C74, OR6C3, TCP11L2, LINC01619, GLIPR1L1, TAS2R43, TAS2R31, TAS2R46, TAS2R30, TAS2R19, TAS2R20, TAS2R50, POC1B, OTOGL, CD163L1, ZNF740, RASSF3, B4GALNT3, OR6C6, ANKRD52, SLC39A5, SPRYD4, ADGRD1, MORN3, C12orf80, DPY19L2, CLEC9A, GAS2L3, MYO1H, HECTD4, KSR2, GATC, C12orf40, MUC19, GXYLT1, TMPRSS12, KRT6C, DDX51, KRT73, MMAB, CLEC4D, HCAR2, C1QL4, TMEM119, KRT79, C12orf74, FAM19A2, SLCO1B7, PABPC1P4, SMCO2, OVCH1, SYT10, ACSM4, ANKRD33, OR6C2, OR6C4, H1FNT, OR8S1, AMIGO2, RILPL1, TAS2R42, DPPA3, NANOGNB, KRT77, PTPRQ, C12orf42, LRRC10, IL31, CLEC2A, CLEC12B, REP15, CCDC184, C12orf75, CFAP73, TMEM233, KMT5A, OR6C1, OR6C75, OR6C76, OR6C70, C12orf76, FIGNL2, OR6C65, OR6C68, MIRLET7I, MIR141, MIR196A2, MIR200C, MIR26A2, IQSEC3, ZNF705A, DDX12P, SMCO3, H3F3C, DBX2, PLEKHG7, TSPAN11, OR9K2, MIR148B, EID3, ATXN7L3B, CLLU1OS, CLLU1, MIR492, HIGD1C, MAP1LC3B2, ANHX, PRB2, LRTM2, MIR616, C12orf73, SKP1P2, C12orf71, SLC15A5, LOC100049716, HOTAIR, MUC8, MANSC4, ZNF605, KLRF2, LRCOL1, POC1B-GALNT4, HOXC13-AS, ZNF891
See casesPathogenic
(Sep 20, 2016)
criteria provided, single submitter
93.
GRCh37:
Chr12:13102483-13804704
EMP1, GRIN2B, HEBP1, GPRC5D, FAM234B, GSG1See casesUncertain significance
(Jan 20, 2016)
criteria provided, single submitter
94.
GRCh37:
Chr12:148034-34178799
A2M, APOBEC1, ARHGDIB, ART4, BCAT1, BICD1, C1R, C1S, C3AR1, CACNA1C, CCND2, CD4, CD9, CD27, CD69, CDKN1B, CHD4, CREBL2, DDX11, ATN1, PHC1, EMP1, ENO2, EPS8, ETV6, FGF6, FKBP4, FOXM1, GAPDH, GNAI2P1, GNB3, GPR19, GRIN2B, GUCY2C, GYS2, IAPP, ITPR2, KCNA1, KCNA5, KCNA6, KCNJ8, KLRB1, KLRC1, KLRC2, KLRC3, KLRD1, KRAS, LAG3, LDHB, LRMP, LRP6, LTBR, M6PR, MGP, MGST1, NDUFA9, NINJ2, NOP2, NTF3, OLR1, PDE3A, PDE6H, PIK3C2G, PKP2, PRB1, PRB3, PRB4, PRH1, PRH2, PTHLH, PTMS, PTPN6, PTPRO, PEX5, PZP, RAD52, KDM5A, RECQL, SCNN1A, ST8SIA1, SLC2A3, SLC6A12, SLC6A13, SLCO1A2, SOX5, VAMP1, TEAD4, TNFRSF1A, TPI1, TULP3, VWF, FGF23, MFAP5, USP5, MLF2, SSPN, KLRC4, PPFIBP1, YBX3, DYRK4, GPRC5A, CD163, MED21, GDF3, CLSTN3, C2CD5, NCAPD2, CLEC2B, DNM1L, ABCC9, LPCAT3, KLRG1, LRRC23, EMG1, IPO8, P3H3, AKAP3, SLCO1B1, RAD51AP1, KLRA1P, TSPAN9, STRAP, RASSF8, PRR4, PHB2, KLRK1, STK38L, ERC1, GABARAPL1, IFFO1, NECAP1, FGFR1OP2, CLEC4E, GALNT8, GPR162, SLCO1B3, CLEC2D, COPS7A, TAS2R9, TAS2R8, TAS2R7, TAS2R13, TAS2R10, TAS2R14, CLEC4A, HEBP1, GOLT1B, YARS2, DERA, ING4, DDX47, MRPL51, CLEC1B, CLEC1A, C1RL, ERGIC2, KLRF1, WBP11, TM7SF3, SLCO1C1, PLEKHA5, MANSC1, TAPBPL, MAGOHB, FAM90A1, KIAA1551, PLEKHG6, CASC1, CCDC91, STYK1, ETNK1, GPRC5D, FAR2, INTS13, ATF7IP, H2AFJ, FOXJ2, ITFG2, LMO3, CMAS, DAD1P1, PRMT8, ARNTL2, PARP11, ANO2, C12orf4, TIGAR, LPAR5, AICDA, RIMKLB, KLHL42, FAM234B, FAM60A, MRPS35, CLEC7A, WNK1, CAPRIN2, BHLHE41, BCL2L14, ADIPOR2, RERGL, PLBD1, PYROXD1, NANOG, SPX, DUSP16, WNT5B, APOLD1, GSG1, CDCA3, RHNO1, NRIP2, RBP5, TMTC1, CCDC77, ACRBP, SPSB2, CRACR2A, ALG10, RERG, PLCZ1, CACNA2D4, CAPZA3, CLEC6A, C12orf57, BORCS5, TMEM52B, HIST4H4, ERP27, FGD4, AEBP2, SLC2A14, ETFRF1, A2ML1, C12orf60, FBXL14, CLEC12A, CLECL1, LMNTD1, DENND5B, CLEC4C, ZNF384, AMN1, C12orf77, PIANP, DCP1B, ETFBKMT, TAS2R43, TAS2R31, TAS2R46, TAS2R30, TAS2R19, TAS2R20, TAS2R50, CD163L1, B4GALNT3, CLEC9A, CLEC4D, SLCO1B7, SMCO2, OVCH1, SYT10, ACSM4, TAS2R42, DPPA3, NANOGNB, CLEC2A, CLEC12B, REP15, MIR141, MIR200C, IQSEC3, ZNF705A, DDX12P, SMCO3, H3F3C, TSPAN11, PRB2, LRTM2, SKP1P2, C12orf71, SLC15A5, LOC100049716, MANSC4, KLRF2
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
95.
GRCh37:
Chr12:89061-34178799
A2M, APOBEC1, ARHGDIB, ART4, BCAT1, BICD1, C1R, C1S, C3AR1, CACNA1C, CCND2, CD4, CD9, CD27, CD69, CDKN1B, CHD4, CREBL2, DDX11, ATN1, PHC1, EMP1, ENO2, EPS8, ETV6, FGF6, FKBP4, FOXM1, GAPDH, GNAI2P1, GNB3, GPR19, GRIN2B, GUCY2C, GYS2, IAPP, ITPR2, KCNA1, KCNA5, KCNA6, KCNJ8, KLRB1, KLRC1, KLRC2, KLRC3, KLRD1, KRAS, LAG3, LDHB, LRMP, LRP6, LTBR, M6PR, MGP, MGST1, NDUFA9, NINJ2, NOP2, NTF3, OLR1, PDE3A, PDE6H, PIK3C2G, PKP2, PRB1, PRB3, PRB4, PRH1, PRH2, PTHLH, PTMS, PTPN6, PTPRO, PEX5, PZP, RAD52, KDM5A, RECQL, SCNN1A, ST8SIA1, SLC2A3, SLC6A12, SLC6A13, SLCO1A2, SOX5, VAMP1, TEAD4, TNFRSF1A, TPI1, TULP3, VWF, FGF23, MFAP5, USP5, MLF2, SSPN, KLRC4, PPFIBP1, YBX3, DYRK4, GPRC5A, CD163, MED21, GDF3, CLSTN3, C2CD5, NCAPD2, CLEC2B, DNM1L, ABCC9, LPCAT3, KLRG1, LRRC23, EMG1, IPO8, P3H3, AKAP3, SLCO1B1, RAD51AP1, KLRA1P, TSPAN9, STRAP, RASSF8, PRR4, PHB2, KLRK1, STK38L, ERC1, GABARAPL1, IFFO1, NECAP1, FGFR1OP2, CLEC4E, GALNT8, GPR162, SLCO1B3, CLEC2D, COPS7A, TAS2R9, TAS2R8, TAS2R7, TAS2R13, TAS2R10, TAS2R14, CLEC4A, HEBP1, GOLT1B, YARS2, DERA, ING4, DDX47, MRPL51, CLEC1B, CLEC1A, C1RL, ERGIC2, KLRF1, WBP11, TM7SF3, SLCO1C1, PLEKHA5, MANSC1, TAPBPL, MAGOHB, FAM90A1, KIAA1551, PLEKHG6, CASC1, CCDC91, STYK1, ETNK1, GPRC5D, FAR2, INTS13, ATF7IP, H2AFJ, FOXJ2, ITFG2, LMO3, CMAS, DAD1P1, PRMT8, ARNTL2, PARP11, ANO2, C12orf4, TIGAR, LPAR5, AICDA, RIMKLB, KLHL42, FAM234B, FAM60A, MRPS35, CLEC7A, WNK1, CAPRIN2, BHLHE41, BCL2L14, ADIPOR2, RERGL, PLBD1, PYROXD1, NANOG, SPX, DUSP16, WNT5B, APOLD1, GSG1, CDCA3, RHNO1, NRIP2, RBP5, TMTC1, CCDC77, ACRBP, SPSB2, CRACR2A, ALG10, RERG, PLCZ1, CACNA2D4, CAPZA3, CLEC6A, C12orf57, BORCS5, TMEM52B, HIST4H4, ERP27, FGD4, AEBP2, SLC2A14, ETFRF1, A2ML1, C12orf60, FBXL14, CLEC12A, CLECL1, LMNTD1, DENND5B, CLEC4C, ZNF384, AMN1, C12orf77, PIANP, DCP1B, ETFBKMT, TAS2R43, TAS2R31, TAS2R46, TAS2R30, TAS2R19, TAS2R20, TAS2R50, CD163L1, B4GALNT3, CLEC9A, CLEC4D, SLCO1B7, SMCO2, OVCH1, SYT10, ACSM4, TAS2R42, DPPA3, NANOGNB, CLEC2A, CLEC12B, REP15, MIR141, MIR200C, IQSEC3, ZNF705A, DDX12P, SMCO3, H3F3C, TSPAN11, PRB2, LRTM2, SKP1P2, C12orf71, SLC15A5, LOC100049716, MANSC4, KLRF2
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
96.
GRCh37:
Chr12:13764796
GRCh38:
Chr12:13611862
GRIN2Bnot specifiedLikely benign
(Oct 21, 2016)
criteria provided, single submitter
97.
GRCh37:
Chr12:13724892
GRCh38:
Chr12:13571958
GRIN2Bnot specifiedGO-ESP:0.00005(G)Likely benign
(Mar 9, 2016)
criteria provided, single submitter
98.
GRCh37:
Chr12:13828766
GRCh38:
Chr12:13675832
GRIN2Bnot specifiedGO-ESP:0.00006(T)Likely benign
(Mar 10, 2016)
criteria provided, single submitter
99.
GRCh37:
Chr12:14018816
GRCh38:
Chr12:13865882
GRIN2Bnot specifiedLikely benign
(Feb 24, 2016)
criteria provided, single submitter
100.
GRCh37:
Chr12:14018818
GRCh38:
Chr12:13865884
GRIN2Bnot specifiedUncertain significance
(Mar 8, 2016)
criteria provided, single submitter
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